A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1010429



Internal ID19099646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196769481..196913266hg38UCSC Ensembl
Innerchr1:196738611..196882396hg19UCSC Ensembl
Innerchr1:195005234..195149019hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38143786
hg19143786
hg18143786
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv528n100
Supporting Variantsnssv3490128
Samples
Known GenesCFHR1, CFHR3, CFHR4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1010429
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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